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BMC Medical Genomics|June 15, 2024
Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinctionDiksha Shirodkar, Sarah Francesca Smithson, Richard Keen, et al.Clinical Genetics|May 9, 2023
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndromeMona Hashim, Helen Stewart, Jing Yu, et al.Journal of Cell Science|September 3, 2016
The role of ADP-ribosylation in regulating DNA interstrand crosslink repairAlasdair R Gunn, Benito Banos-Pinero, Peggy Paschke, et al.European Journal of Human Genetics : EJHG|May 21, 2025
Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsyErina Sasaki, Philip Millington, Taisiia Sazonova, et al.Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyAdam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.Pageof 1